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Q14331

- FRG1_HUMAN

UniProt

Q14331 - FRG1_HUMAN

Protein

Protein FRG1

Gene

FRG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase SUV420H1.5 Publications

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB
    2. protein binding Source: IntAct

    GO - Biological processi

    1. mRNA splicing, via spliceosome Source: UniProtKB
    2. rRNA processing Source: UniProtKB-KW

    Keywords - Biological processi

    mRNA processing, mRNA splicing, Myogenesis, Ribosome biogenesis, rRNA processing

    Keywords - Ligandi

    Actin-binding, RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FRG1
    Alternative name(s):
    FSHD region gene 1 protein
    Gene namesi
    Name:FRG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:3954. FRG1.

    Subcellular locationi

    NucleusCajal body. Nucleusnucleolus. Cytoplasm. CytoplasmmyofibrilsarcomereZ line
    Note: Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post-differentiation. Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation.

    GO - Cellular componenti

    1. Cajal body Source: UniProtKB-SubCell
    2. catalytic step 2 spliceosome Source: UniProtKB
    3. nuclear speck Source: UniProtKB-SubCell
    4. nucleolus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus, Spliceosome

    Pathology & Biotechi

    Involvement in diseasei

    Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.2 Publications
    Note: The gene represented in this entry may be involved in disease pathogenesis. Overexpression of human FRG1 in mice leads to development of facioscapulohumeral muscular dystrophy (FSHD1)-like symptoms such as kyphosis, progressive muscle dystrophy and skeletal muscle atrophy (PubMed:16341202). It also causes aberrant pre-mRNA splicing of TNNT3 and MTMR1, affects the localization and activity of SUV420H1, and leads to increased levels of EID3, resulting in inhibited muscle differentiation (PubMed:23720823). These results suggest that FSHD1 results from inappropriate overexpression of FRG1 which leads to abnormal alternative splicing of specific pre-mRNAs.2 Publications

    Organism-specific databases

    MIMi158900. phenotype.
    Orphaneti269. Facioscapulohumeral dystrophy.
    PharmGKBiPA28372.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 258258Protein FRG1PRO_0000220767Add
    BLAST

    Proteomic databases

    MaxQBiQ14331.
    PaxDbiQ14331.
    PeptideAtlasiQ14331.
    PRIDEiQ14331.

    PTM databases

    PhosphoSiteiQ14331.

    Expressioni

    Tissue specificityi

    Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis.1 Publication

    Gene expression databases

    ArrayExpressiQ14331.
    BgeeiQ14331.
    CleanExiHS_FRG1.
    GenevestigatoriQ14331.

    Interactioni

    Subunit structurei

    Homodimer and homotetramer in solution. Identified in the spliceosome C complex. Interacts with SUV420H1 (via C-terminus). Interacts (via N-terminus) with KPNA2 and NXF1/TAP. Interacts with F-actin with a stoichiometry of 2:1.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CWC22Q9HCG82EBI-2515248,EBI-373289

    Protein-protein interaction databases

    BioGridi108764. 6 interactions.
    IntActiQ14331. 4 interactions.
    MINTiMINT-3029354.
    STRINGi9606.ENSP00000226798.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14331.
    SMRiQ14331. Positions 41-188.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi22 – 3211Nuclear localization signalSequence AnalysisAdd
    BLAST
    Motifi235 – 25117Bipartite nuclear localization signalSequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi8 – 3225Lys-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the FRG1 family.Curated

    Phylogenomic databases

    eggNOGiNOG289849.
    HOGENOMiHOG000007130.
    HOVERGENiHBG018564.
    InParanoidiQ14331.
    KOiK13122.
    OMAiSTRERWE.
    PhylomeDBiQ14331.
    TreeFamiTF314108.

    Family and domain databases

    InterProiIPR008999. Actin_cross-linking.
    IPR010414. FRG1.
    [Graphical view]
    PANTHERiPTHR12928. PTHR12928. 1 hit.
    PfamiPF06229. FRG1. 1 hit.
    [Graphical view]
    SUPFAMiSSF50405. SSF50405. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q14331-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV    50
    TNFGEISGTI AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV 100
    KLSDSRIALK SGYGKYLGIN SDGLVVGRSD AIGPREQWEP VFQNGKMALL 150
    ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI RSCAERETKK KDDIPEEDKG 200
    NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL HETLLDRRAK 250
    LKADRYCK 258
    Length:258
    Mass (Da):29,172
    Last modified:November 1, 1996 - v1
    Checksum:iFFBC981B7602BDB3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191T → A.
    Corresponds to variant rs17797703 [ dbSNP | Ensembl ].
    VAR_049105
    Natural varianti66 – 661K → E.
    Corresponds to variant rs17406826 [ dbSNP | Ensembl ].
    VAR_033938

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L76159 mRNA. Translation: AAA95939.1.
    AF146191 Genomic DNA. Translation: AAD46768.1.
    AK291890 mRNA. Translation: BAF84579.1.
    CH471056 Genomic DNA. Translation: EAX04600.1.
    BC053997 mRNA. Translation: AAH53997.1.
    CCDSiCCDS34121.1.
    RefSeqiNP_004468.1. NM_004477.2.
    UniGeneiHs.203772.

    Genome annotation databases

    EnsembliENST00000226798; ENSP00000226798; ENSG00000109536.
    GeneIDi2483.
    KEGGihsa:2483.
    UCSCiuc003izs.3. human.

    Polymorphism databases

    DMDMi18202499.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L76159 mRNA. Translation: AAA95939.1 .
    AF146191 Genomic DNA. Translation: AAD46768.1 .
    AK291890 mRNA. Translation: BAF84579.1 .
    CH471056 Genomic DNA. Translation: EAX04600.1 .
    BC053997 mRNA. Translation: AAH53997.1 .
    CCDSi CCDS34121.1.
    RefSeqi NP_004468.1. NM_004477.2.
    UniGenei Hs.203772.

    3D structure databases

    ProteinModelPortali Q14331.
    SMRi Q14331. Positions 41-188.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108764. 6 interactions.
    IntActi Q14331. 4 interactions.
    MINTi MINT-3029354.
    STRINGi 9606.ENSP00000226798.

    PTM databases

    PhosphoSitei Q14331.

    Polymorphism databases

    DMDMi 18202499.

    Proteomic databases

    MaxQBi Q14331.
    PaxDbi Q14331.
    PeptideAtlasi Q14331.
    PRIDEi Q14331.

    Protocols and materials databases

    DNASUi 2483.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000226798 ; ENSP00000226798 ; ENSG00000109536 .
    GeneIDi 2483.
    KEGGi hsa:2483.
    UCSCi uc003izs.3. human.

    Organism-specific databases

    CTDi 2483.
    GeneCardsi GC04P190861.
    GeneReviewsi FRG1.
    H-InvDB HIX0058694.
    HIX0176447.
    HGNCi HGNC:3954. FRG1.
    MIMi 158900. phenotype.
    601278. gene.
    neXtProti NX_Q14331.
    Orphaneti 269. Facioscapulohumeral dystrophy.
    PharmGKBi PA28372.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289849.
    HOGENOMi HOG000007130.
    HOVERGENi HBG018564.
    InParanoidi Q14331.
    KOi K13122.
    OMAi STRERWE.
    PhylomeDBi Q14331.
    TreeFami TF314108.

    Miscellaneous databases

    ChiTaRSi FRG1. human.
    GeneWikii FRG1.
    GenomeRNAii 2483.
    NextBioi 9821.
    PROi Q14331.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14331.
    Bgeei Q14331.
    CleanExi HS_FRG1.
    Genevestigatori Q14331.

    Family and domain databases

    InterProi IPR008999. Actin_cross-linking.
    IPR010414. FRG1.
    [Graphical view ]
    PANTHERi PTHR12928. PTHR12928. 1 hit.
    Pfami PF06229. FRG1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50405. SSF50405. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements."
      van Geel M., Heather L.J., Lyle R., Hewitt J.E., Frants R.R., de Jong P.J.
      Genomics 61:55-65(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Uterus.
    6. "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis."
      Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J.
      RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX.
    7. Cited for: FUNCTION, SUBCELLULAR LOCATION.
    8. Cited for: OVEREXPRESSION, INVOLVEMENT IN FSHD1.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein."
      Hanel M.L., Sun C.Y., Jones T.I., Long S.W., Zanotti S., Milner D., Jones P.L.
      Differentiation 81:107-118(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    11. "Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein."
      Sun C.Y., van Koningsbruggen S., Long S.W., Straasheijm K., Klooster R., Jones T.I., Bellini M., Levesque L., Brieher W.M., van der Maarel S.M., Jones P.L.
      J. Mol. Biol. 411:397-416(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, HOMODIMERIZATION, HOMOTETRAMERIZATION, INTERACTION WITH KPNA2 AND NXF1, RNA-BINDING, ACTIN-BINDING, SUBCELLULAR LOCATION, NUCLEAR LOCALIZATION SIGNAL.
    12. "FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis."
      Neguembor M.V., Xynos A., Onorati M.C., Caccia R., Bortolanza S., Godio C., Pistoni M., Corona D.F., Schotta G., Gabellini D.
      J. Mol. Cell Biol. 5:294-307(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, OVEREXPRESSION, SUBCELLULAR LOCATION, INTERACTION WITH SUV420H1, INVOLVEMENT IN FSHD1.

    Entry informationi

    Entry nameiFRG1_HUMAN
    AccessioniPrimary (citable) accession number: Q14331
    Secondary accession number(s): A8K775
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 123 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    Was originally thought to be located in nuclear speckles based on overexpression of the protein (PubMed:15060122). However, the endogenous protein was later shown not be expressed in nuclear speckles (PubMed:21699900).2 Publications

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3